Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01606:Cyp39a1'

93439

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp39a1

Ensembl Gene

ENSMUSG00000023963

Gene Name

cytochrome P450, family 39, subfamily a, polypeptide 1

Synonyms

oxysterol 7-alpha-hydroxylase

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01606

Quality Score

Status

Chromosome

Chromosomal Location

43667425-43751431 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 43746618 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170988]

Predicted Effect

probably benign
Transcript: ENSMUST00000170988

SMART Domains

Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963

Domain	Start	End	E-Value	Type
Pfam:p450	32	464	1.9e-52	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	G	17: 14,943,863	D84G	probably damaging	Het
Adat3	A	T	10: 80,607,338	I337F	probably damaging	Het
Carmil3	T	A	14: 55,493,849	N128K	possibly damaging	Het
Ceacam2	T	C	7: 25,530,707	E158G	possibly damaging	Het
Cel	T	C	2: 28,560,564	I150V	probably benign	Het
Chd5	A	G	4: 152,360,975	H441R	probably damaging	Het
Clic5	G	T	17: 44,248,746	R109L	probably benign	Het
Cpd	T	C	11: 76,812,640	M466V	probably benign	Het
Dnah11	C	A	12: 117,983,032	A3106S	probably benign	Het
Fasn	A	C	11: 120,809,023		probably null	Het
Fat1	G	A	8: 45,023,049	V1688I	probably benign	Het
Fibcd1	A	G	2: 31,833,853	I258T	probably benign	Het
Frem2	C	A	3: 53,653,591	R1165I	possibly damaging	Het
Gm5627	C	T	9: 102,749,486		noncoding transcript	Het
Gm5862	T	A	5: 26,019,516	T152S	probably benign	Het
Gnb3	T	A	6: 124,837,255	D154V	probably damaging	Het
Ighv1-14	T	C	12: 114,646,837		noncoding transcript	Het
Klrb1	C	A	6: 128,723,005	E14D	probably benign	Het
Osbpl1a	A	T	18: 12,756,214	D556E	possibly damaging	Het
Pkd1	T	C	17: 24,576,523	V2330A	probably damaging	Het
Pkdrej	T	C	15: 85,817,700	K1345R	possibly damaging	Het
Plxna4	A	G	6: 32,158,001	F1756L	probably damaging	Het
Psg28	A	C	7: 18,430,371	S139A	probably benign	Het
Ptpru	A	T	4: 131,808,481	I395N	possibly damaging	Het
Reps1	A	G	10: 18,107,687	E426G	probably damaging	Het
Rtp4	T	A	16: 23,613,254	S179T	probably benign	Het
Sh3pxd2a	C	A	19: 47,268,596	R561L	probably benign	Het
Slc29a2	T	A	19: 5,027,439	L215Q	possibly damaging	Het
Slc44a4	T	C	17: 34,929,018	F653L	probably damaging	Het
Sulf1	G	T	1: 12,836,204	R490L	possibly damaging	Het
Ttll4	T	C	1: 74,685,893	L602P	probably damaging	Het
Ttn	A	G	2: 76,776,790	V17963A	probably damaging	Het
Urb1	A	G	16: 90,760,459	S1760P	probably damaging	Het
Zmynd11	G	A	13: 9,697,688	R149W	probably damaging	Het

Other mutations in Cyp39a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Cyp39a1	APN	17	43701543	missense	probably benign	0.01
IGL01070:Cyp39a1	APN	17	43683022	missense	probably benign	0.00
IGL01769:Cyp39a1	APN	17	43749915	missense	possibly damaging	0.53
IGL01916:Cyp39a1	APN	17	43731050	missense	probably damaging	1.00
IGL02374:Cyp39a1	APN	17	43749981	utr 3 prime	probably benign
IGL02402:Cyp39a1	APN	17	43691722	missense	probably benign	0.07
IGL03097:Cyp39a1	UTSW	17	43683050	nonsense	probably null
R0230:Cyp39a1	UTSW	17	43732012	missense	probably damaging	1.00
R1244:Cyp39a1	UTSW	17	43749945	missense	probably benign	0.13
R1572:Cyp39a1	UTSW	17	43680129	missense	probably damaging	1.00
R1656:Cyp39a1	UTSW	17	43667619	missense	possibly damaging	0.74
R4036:Cyp39a1	UTSW	17	43676940	missense	probably damaging	0.97
R4308:Cyp39a1	UTSW	17	43730964	splice site	probably null
R5081:Cyp39a1	UTSW	17	43746597	missense	probably damaging	1.00
R5197:Cyp39a1	UTSW	17	43746538	missense	possibly damaging	0.67
R5405:Cyp39a1	UTSW	17	43676940	missense	probably damaging	1.00
R5566:Cyp39a1	UTSW	17	43685208	missense	possibly damaging	0.92
R5578:Cyp39a1	UTSW	17	43680140	missense	possibly damaging	0.91
R6045:Cyp39a1	UTSW	17	43731991	missense	probably damaging	1.00
R6495:Cyp39a1	UTSW	17	43691694	missense	probably benign	0.41
R7191:Cyp39a1	UTSW	17	43731019	nonsense	probably null
R7431:Cyp39a1	UTSW	17	43683015	missense	probably benign
R7522:Cyp39a1	UTSW	17	43667479	start gained	probably benign
R7620:Cyp39a1	UTSW	17	43725653	splice site	probably null
R8022:Cyp39a1	UTSW	17	43746577	missense	probably damaging	1.00
R8143:Cyp39a1	UTSW	17	43725626	missense	probably benign	0.39
R8483:Cyp39a1	UTSW	17	43683007	missense	probably benign	0.01
R8549:Cyp39a1	UTSW	17	43730995	missense	possibly damaging	0.95
Z1176:Cyp39a1	UTSW	17	43725577	missense	probably benign	0.01
Z1176:Cyp39a1	UTSW	17	43731048	missense	probably damaging	1.00

Posted On

2013-12-09